This article has been corrected to note that Color provides genetic risk testing for several hereditary cardiovascular diseases, not just familial hypercholesterolemia.
NEW YORK – People around the US, regardless of whether they live in a large city or a remote village, can now order genetic tests online to learn their inherited risks for serious diseases, such as cancer.
But what do individuals do after they learn their risks? How do they find experts who can help them understand their genetic risk for cancer, for example, and apply it to their care? A recent analysis by population health-focused genetic testing firm Color illustrates the difficulty a person may face in following up on their test results in a healthcare facility with providers and genetic counselors who have the necessary expertise.
In a study presented at the National Society of Genetic Counselors annual meeting earlier this month, researchers from Color looked at where customers who had gotten cancer risk testing lived and found that around a third would have had to travel 50 miles or more for face-to-face genetic counseling. When researchers looked at customers who had a positive genetic finding for a cardiovascular condition, they found the access gap was worse, with more than 50 percent having to travel 50 miles or more.
If people have a long way to travel in order to get the medical advice and care they need, then they may be less likely to seek it out. In a poster describing the study, researchers at Color noted that people may have to arrange for child care, request time off from work, figure out transportation due to physical disabilities, or deal with financial constraints in order to attend in-person counseling sessions that are far away.
The findings point to the need for technological solutions that can be used to support patients and doctors when face-to-face, traditional genetic counseling isn't easily accessible, and to better educate local healthcare providers so they are more comfortable discussing genetic information with their patients.
Color launched in 2015 with a goal to reduce barriers to genetic testing access. Through the company's online, consumer-facing testing service, customers could learn if they harbored mutations in BRCA1, BRCA2, and several other cancer-linked genes for around $250. Color soon expanded its panel to include analysis of 30 genes associated with hereditary cancers, and more recently, began offering genetic tests to assess risk for hereditary cardiovascular diseases and certain pharmacogenetic indications.
All the while, the company tried to make it easier for customers to access testing by using a third-party physician network to approve test orders (so they wouldn't have to travel to see a doctor and ask them to write a prescription for the test); using online educational materials to provide information in the pre-test setting, and employing genetic counselors who called patients with positive results and reviewed the findings over the phone.
Although Color pioneered this consumer-facing model now used by many other firms, the Burlingame, California-based company wanted to understand the existing gaps and resources available around the country for genetic counseling now that it is charged with building a genetic counseling resource for the National Institutes of Health's All of Us Research Program.
"We wanted to understand how far someone might have to travel in order to speak to a genetic counselor for results that are actionable to them," said Alicia Zhou, VP of research and scientific affairs at Color. "One of the barriers that we've heard about is, once you get those results, how do you talk to a specialist who knows something about the condition and how long might it take [to talk to them]?"
The goal within All of Us is to conduct health research based on genetic and other data from 1 million participants enrolled from all over the US. The NIH recently awarded Color a $4.6 million grant to build a genetic counseling resource to help participants in the project understand the genetic results they might receive and integrate that knowledge in their medical care.
Much has been written about how demand for genetic testing is outpacing the number of certified genetic counselors who can manage those tested, though the NSGC believes the fears are overblown. The American Board of Genetic Counseling estimates there are currently more than 5,100 certified genetic counselors in the US, and according to the NSGC, the profession is growing at a pace where in five years, there should be around 7,500 certified genetic counselors and in ten years, there may be as many as 10,000.
However, interest in genetic testing is also growing at a rapid clip. MIT Technology Review estimated that at the start of this year, more than 26 million consumers had been genetically tested by one of four direct-to-consumer testing firms, and the numbers are on track to cross 100 million by 2021. The launch of large population health projects, such as All of Us, are adding to the need for counselors and genetics expertise.
"One of the things we're trying to think about is what the role of genetic counselors is in this new paradigm," said Zhou.
For the analysis presented at the NSGC meeting, researchers from Color evaluated approximately 4,200 customers who had learned they harbored a pathogenic or likely pathogenic genetic variant associated with cancer risk or hereditary cardiovascular disease. Patients included in this analysis had agreed to let the company use their data for research, had already received genetic counseling about their result over the telephone, and had indicated their residence in the US. Researchers then used the NSGC member directory and Google Maps to estimate how far these customers would have had to travel in order to speak to a genetic counselor face to face.
On average, the nearly 4,000 customers with a positive result for a hereditary cancer risk, living throughout the 50 states, would have had to travel 28.3 miles to speak to a genetic counselor. More specifically, 69 percent would've had to travel less than 50 miles, but the rest would have had a much longer journey. Around 12 percent were 50 to 99 miles from a genetic counselor, the same proportion resided 100 to 149 miles away, and the rest lived 150 to 200 miles away or even further.
A state-by-state breakdown showed the access to in-person genetic counseling to be particularly limited in the middle of the country. Customers in 16 states did not have access to a genetic counselor within 50 miles, and individuals in Wyoming, North Dakota, and Nevada would have had to travel the farthest.
Because Color has been offering genetic testing for cancer risk since it launched, the company had more customer data to draw on in this setting than for hereditary cardiovascular disease, which is a newer offering. Still, the data from around 200 Color customers who received a positive test result for a hereditary heart condition and resided in 35 states illustrated an even greater disparity. Customers would have had to travel an average of 49.7 miles in order to access a genetic counselor, and around 57 percent would have had to travel 50 miles or more to see a genetic counselor for their cardiovascular genetic risk results. Those living in 10 states, including Wyoming, Arkansas, and New Mexico, would have had to travel more than 150 miles.
Genetic counseling access appeared to be worse for those with hereditary heart disease risk results compared to individuals with cancer risk results largely because there are more cancer genetic counselors than cardiovascular genetic counselors in the US. According to Color's evaluation, California is the US state with the most certified genetic counselors, and while there are 77 counselors specializing in cancer in that state, there are only 17 specializing in cardiovascular genetics. As a result, Zhou noted, if you have a cardiovascular genetics finding, you will likely have to travel further if you want to speak to a genetic counselor with that specialty.
The NSGC's 2019 survey of its members also picked up the geographic gaps in access to genetic counselors around the country. More than 2,400 counselors responded to the survey, from every state except West Virginia. However, the data revealed that around 56 percent of counselors worked in ten US states, with the most counselors located in California and New York — around 294 and 143 counselors in each state, respectively — followed by Pennsylvania, Texas, Massachusetts, Ohio, Illinois, Maryland, North Carolina, and Minnesota.
According to the same survey, the top five areas of practice for genetic counselors are cancer, representing 44 percent of respondents, followed by prenatal, pediatrics, general genetics, and preconception genetics. "If you look at the history of clinical genetics, cancer genetics as a field as been around much longer than cardiovascular disease genetics," she said, but added that trainees are increasingly going into other fields, such as cardiovascular disease.
The disparities identified by Color's study in cardiovascular risk testing also point to the need to better define criteria for genetic counseling specialization, according to Ellen Matloff, a certified genetic counselor and CEO of My Gene Counsel, a company that provides a digital genetic counseling resource to patients and providers. Currently, genetic counselors cannot be board certified in a specialty. In the NSGC survey, for example, respondents self-identified their specialty based on their professional experience. However, graduate genetic counseling programs are now being designed so students can emerge with expertise in a specific area, Matloff noted.
Color, in its study, also tried to estimate the economic barriers to genetic counseling access. The average income for customers with a pathogenic or likely pathogenic cancer risk result did not differ whether they lived in states that required less than 50 miles of travel or in states that required more travel. However, the average income was lower for those with a positive hereditary cardiovascular disease result if they had to travel more than 50 miles compared to those who had access to a counselor within 50 miles, further underscoring the disparity in cardiovascular genetics.
The data Color presented are estimates based on publicly available data, and the company didn't confirm which actual actions customers took in following up on their positive test results. However, in order to be considered for increased screening or prophylactic surgery, for example, Color's customers would have had to take their positive test results indicating they were at increased risk for cancer to a healthcare facility. There, at least they would have to have a face-to-face discussion about their genetic test results, their own health history, and their family's cancer history with a healthcare provider and possibly even see a genetic counselor face to face (even though they had already spoken to a counselor on the phone).
It is unclear how these encounters went. While doctors at major cancer centers and academic institutions may have expertise in genetics, many in the community setting don't have a good handle on interpreting genetic testing results. Studies have shown, for example, that oncologists don't always know how to treat patients who have pathogenic mutations in genes that confer only a moderate cancer risk compared to the general population, or how to guide patients when the association of a gene with a specific cancer isn't definitively established.
But as more people get tested, the healthcare profession will have to get better at guiding people's care based on genetic test results that they got outside of traditional channels. "In hereditary cancer, for example, we once felt that people had to come to a few centers of excellence in the US and they couldn't be managed by the local oncologist or Ob/Gyn. But since then, our feelings on this have shifted," said Matloff, who was previously the director of the Cancer Genetic Counseling Program at Yale School of Medicine. "If we provide education to local physicians about exactly what the risks and options are for someone with a particular test result, then in fact, they can be managed locally."
Matloff believes that through the combination of education and technology solutions, community healthcare providers can be better equipped to address genetics with their patients. "For the majority of people, that's going to make more sense," she said. "And that's probably going to be more successful, if people can stay with their own local physicians … who know them and who they trust."
Matloff founded My Gene Counsel hoping to provide a solution with a digital platform through which patients and providers can access expertly curated, understandable information on genetic test results in different specialities. If management recommendations from an expert group changes for a gene or a condition, My Gene Counsel's platform also updates the information it is providing to doctors and patients and notifies them via text or email. "This way, patients are not expected to go back to that specialist who lives 90 miles away, three times a year, to make sure they're not missing out on something," she said.
Color hasn't yet fully outlined its plans for the All of Us program's genetic counseling resource, but the company is also expecting to use a combination of technology, its own genetic counselors, and tap into the resources and expertise already available in the field to address participants' needs. "We wanted to start out with a survey to understand where people can currently get care, what potential gaps there might be, and how we can try to fill those gaps with the software infrastructure that we've built," Zhou said.
All of Us has partnered with a number of regional healthcare centers to enroll participants and collect biological samples from them. Color sees opportunities to educate the staff at these partner organizations on how to have that initial discussion with participants on genetics, the types of results they might get back within the study, and when to refer them to a genetic counselor. "There are so many centers already attached to the All of Us Research Program, and many of them already have built in genetic counseling services," Zhou said. "So, [we're] understanding where those are available and tap into those."
Matloff emphasized that a national genetic counseling resource of the type Color is building must involve genetics experts, not just people from the testing industry who understand the technology, but those with decades of experience in the "trenches" of clinical genetics, counseling patients and their families. Such a resource should also involve genetic counselors who have extensive experience in the subspecialty areas and engage with clinicians, so they can learn and have some "hands on experience" with counseling.
Since no one has ever tried to scale genetic counseling services to 1 million participants, Zhou assured that Color is approaching its task thoughtfully. She added that the Color team attended the NSGC annual meeting to engage with the genetic counseling community as the company builds the software infrastructure for All of Us.